Featured
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News Explainer |
How the immune system could stymie some CRISPR gene therapies
Researchers hoping to use a gene-editing technique to treat diseases may have to seek alternative enzymes.
- Heidi Ledford
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News |
Gene editing staves off deafness in mice
Technique to knock out mutant gene relies on fatty molecules to deliver CRISPR components to inner-ear cells.
- Heidi Ledford
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Research Highlight |
A CRISPR system to turn genes on
New technique modifies gene expression instead of actual DNA.
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News & Views |
Transgenic stem cells replace skin
The treatment of a patient affected by an incurable genetic skin disease demonstrates the efficacy, feasibility and safety of replacing almost the whole skin using genetically corrected stem cells. See Letter p.327
- Mariaceleste Aragona
- & Cédric Blanpain
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News |
FDA advisers back gene therapy for rare form of blindness
Therapy that targets disease-causing mutations could become the first of its kind approved for use in the United States.
- Heidi Ledford
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Outlook |
Gene therapy: Erasing sickle-cell disease
Clinical trials may soon test whether gene editing can cure a group of debilitating haemoglobin disorders.
- Katherine Bourzac
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News |
Doubts raised about CRISPR gene-editing study in human embryos
Alternative explanations challenge whether technique actually fixed a genetic mutation as claimed.
- Ewen Callaway
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News |
CRISPR fixes disease gene in viable human embryos
Gene-editing experiment pushes scientific and ethical boundaries.
- Heidi Ledford
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News |
US science advisers outline path to genetically modified babies
Modified human embryos should be allowed if researchers meet strict criteria, says long-awaited National Academies report.
- Sara Reardon
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Research Highlights |
Gene therapy restores hearing
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Article |
Prevalence and architecture of de novo mutations in developmental disorders
Whole-exome analysis of individuals with developmental disorders shows that de novo mutations can equally cause loss or altered protein function, but that most mutations causing altered protein function have not yet been described.
- Jeremy F. McRae
- , Stephen Clayton
- & Matthew E. Hurles
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News |
CRISPR gene-editing tested in a person for the first time
The move by Chinese scientists could spark a biomedical duel between China and the United States.
- David Cyranoski
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News |
Safety concerns blight promising cancer therapy
As the first T-cell therapies for tumours near US approval, researchers race to engineer less-toxic alternatives.
- Heidi Ledford
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News |
CRISPR deployed to combat sickle-cell anaemia
Studies in mice highlight the promises — and challenges — of CRISPR–Cas9 gene editing.
- Heidi Ledford
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Letter |
Formation of new chromatin domains determines pathogenicity of genomic duplications
Genomic duplications in the SOX9 region are associated with human disease phenotypes; a study using human cells and mouse models reveals that the duplications can cause the formation of new higher-order chromatin structures called topologically associated domains (TADs) thereby resulting in changes in gene expression.
- Martin Franke
- , Daniel M. Ibrahim
- & Stefan Mundlos
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News |
UK bioethicists eye designer babies and CRISPR cows
Panel will focus on the implications of gene editing in human reproduction and livestock.
- Heidi Ledford
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Outlook |
Lysosomal storage disorders: 4 big questions
The quest to understand lysosomal storage disorders (LSDs) has left researchers grappling with questions that have implications for other diseases too.
- Michael Eisenstein
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Outlook |
Gene therapy: A new chapter
In the 1980s, bone-marrow transplants transformed the lives of children with fatal lysosomal diseases. Researchers are now working on another revolutionary treatment.
- Anthony King
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Outlook |
Gene therapy: Industrial strength
After a series of setbacks, genetic therapies are finally moving beyond small academic trials towards approval as treatments.
- Eric Bender
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News |
Replications, ridicule and a recluse: the controversy over NgAgo gene-editing intensifies
As failures to replicate results using the CRISPR alternative stack up, a quiet scientist stands by his claims.
- David Cyranoski
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News |
Chinese scientists to pioneer first human CRISPR trial
Gene-editing technique to treat lung cancer is due to be tested in people in August.
- David Cyranoski
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Editorial |
Gene-therapy trials must proceed with caution
The perils of the past must not be allowed to happen again
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News |
First CRISPR clinical trial gets green light from US panel
The technique's first test in people could begin as early as the end of the year.
- Sara Reardon
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News |
Promising gene therapies pose million-dollar conundrum
Economists, investors and medical insurers can’t figure out how to pay for cutting-edge drugs.
- Erika Check Hayden
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News |
CRISPR: Ask us anything
Join us on Reddit where we'll be talking about all things CRISPR.
- Heidi Ledford
- & Sara Reardon
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News & Views |
The domestication of Cas9
The enzyme Cas9 is used in genome editing to cut selected DNA sequences, but it also creates breaks at off-target sites. Protein engineering has now been used to make Cas9 enzymes that have minimal off-target effects. See Article p.490
- Fyodor Urnov
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Research Highlights |
CRISPR fixes muscle disease
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News |
Gene-editing summit supports some research in human embryos
Three-day meeting calls for further discussions on modifications to the gene pool.
- Sara Reardon
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Outlook |
Research: Biology's big hit
Scientists now have several tools to edit the genomes of living organisms. One of the most recent is revolutionizing research and has thrust two of its creators into the limelight.
- Zoë Corbyn
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News |
Human-genome editing summit to sample global attitudes
Academies in the US, China and the UK jointly organized the gathering.
- Sara Reardon
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Letter |
Genome-wide detection of DNase I hypersensitive sites in single cells and FFPE tissue samples
A DNase sequencing method termed scDNase-seq detects DNase I hypersensitive sites genome-wide in single cells and pools of cells dissected from cancer biopsies.
- Wenfei Jin
- , Qingsong Tang
- & Keji Zhao
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News |
Leukaemia success heralds wave of gene-editing therapies
One-year-old girl treated as plans to inject DNA-cutting technology directly into patients' bodies take shape.
- Sara Reardon
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News |
Success against blindness encourages gene therapy researchers
Positive news buoys a beleaguered field, but treatment benefits may fade.
- Heidi Ledford
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News |
Gene-editing record smashed in pigs
Researchers modify more than 60 genes in effort to enable organ transplants into humans.
- Sara Reardon
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Research Highlights |
Ancestral virus for gene therapy
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Research Highlights |
Deafness can be reversed in mice
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Research Highlights |
Gene therapy halts type 1 diabetes
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News |
Chinese scientists genetically modify human embryos
Rumours of germline modification prove true — and look set to reignite an ethical debate.
- David Cyranoski
- & Sara Reardon
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News |
Mini enzyme moves gene editing closer to the clinic
Discovery expands potential CRISPR toolbox for treating genetic diseases in humans.
- Heidi Ledford
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News & Views |
Tied down by its own receptor
An engineered protein that binds to the envelope of HIV viruses protects monkeys against infection with a simian–human virus that causes AIDS. This gene-therapy approach might provide an alternative to elusive HIV vaccines. See Letter p.87
- Nancy L. Haigwood
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Outlook |
Comparative biology: Naked ambition
A subterranean species that seems to be cancer-proof is providing promising clues on how we might prevent the disease in humans.
- Sarah Deweerdt
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Perspective
| Open AccessGuidelines for investigating causality of sequence variants in human disease
Acceleration in discovery of rare genetic variants possibly linked with disease may mean an increased risk of false-positive reports of causality; this Perspective proposes guidelines to distinguish disease-causing sequence variants from the many potentially functional variants in a human genome, and to assess confidence in their pathogenicity, and highlights priority areas for development.
- D. G. MacArthur
- , T. A. Manolio
- & C. Gunter
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Letter |
Dysfunctional nitric oxide signalling increases risk of myocardial infarction
Two private, heterozygous mutations in two functionally related genes, GUCY1A3 and CCT7, are identified in an extended family with myocardial infarction; these genes encode proteins that work together to inhibit platelet activation after nitric oxide stimulation, suggesting a link between impaired nitric oxide signalling and myocardial infarction risk.
- Jeanette Erdmann
- , Klaus Stark
- & Heribert Schunkert
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Article |
Nuclear genome transfer in human oocytes eliminates mitochondrial DNA variants
Nuclear genome transfer using unfertilized donor oocytes is performed and shown to be effective in preventing the transmission of mitochondrial DNA mutations; the swapped oocytes can develop to the blastocyst stage, and produce parthenogenetic embryonic stem-cell lines that show normal karyotypes and only mitochondrial DNA from the donor oocyte.
- Daniel Paull
- , Valentina Emmanuele
- & Dieter Egli
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News & Views |
Mice and men show the way
Disorders caused by single genes, such as fragile X syndrome, share symptoms with the genetically complex autism spectrum disorders. It emerges that effective drugs for the former may lead to therapies for the latter.
- Evdokia Anagnostou
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Letter |
Mitochondrial Atpif1 regulates haem synthesis in developing erythroblasts
Atpif1, a mitochondrial ATPase inhibitor, was identified as a zebrafish anemic mutant, pinotage, providing an important link in our understanding of the relationship between mitochondrial homeostasis and haem synthesis and identifying a gene that may have a role in human iron, haem and mitochondrial diseases.
- Dhvanit I. Shah
- , Naoko Takahashi-Makise
- & Barry H. Paw
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Outlook |
Genetics: Searching for answers
Solving the riddle of autism genetics will require looking beyond the growing list of candidate genes to epigenetics and personalized medicine.
- Sarah C. P. Williams
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Article
| Open AccessAn integrated map of genetic variation from 1,092 human genomes
This report from the 1000 Genomes Project describes the genomes of 1,092 individuals from 14 human populations, providing a resource for common and low-frequency variant analysis in individuals from diverse populations; hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites, can be found in each individual.
- Gil A. McVean
- , David M. Altshuler (Co-Chair)
- & Gil A. McVean